• A Deletion of More than 800 kb Is the Most Recurrent Mutation in Chilean Patients with SHOX Gene Defects
• A Leri-Weill dyschondrosteosis patient confirmed by mutation analysis of SHOX gene
• A Track Record on SHOX: From Basic Research to Complex Models and Therapy
• Clinical impact of variants in non-coding regions of SHOX - Current knowledge
• Co-occurrence of genomic imbalances on Xp22.1 in the SHOX region and 15q25.2 in a girl with short stature, precocious puberty, urogenital malformations and bone anomalies
• Combined achondroplasia and short stature homeobox (SHOX) gene deletion in a Danish infant
• Combined achondroplasia and short stature homeobox-containing (SHOX) gene deletion in a Danish infant
• Compound heterozygous deletions in pseudoautosomal region 1 in an infant with mild manifestations of langer mesomelic dysplasia
• Dental and Maxillofacial Signs in Leri-Weill Dyschondrosteosis
• Detection of <em>SHOX</em> Gene Variations in Patients with Skeletal Abnormalities with or without Short Stature
• Homozygosity for a novel deletion downstream of the SHOX gene provides evidence for an additional long range regulatory region with a mild phenotypic effect
• Identification and Tissue-Specific Characterization of Novel SHOX-Regulated Genes in Zebrafish Highlights SOX Family Members Among Other Genes
• Identification of 15 novel partial SHOX deletions and 13 partial duplications, and a review of the literature reveals intron 3 to be a hotspot region
• Identification of novel SHOX target genes in the developing limb using a transgenic mouse model
• Leri-Weill Dyschondrosteosis Caused by a Leaky Homozygous <em>SHOX</em> Splice-Site Variant
• Mild phenotypes in patients with different deletions in the 3' enhancer region of SHOX
• NPPB and ACAN, two novel SHOX2 transcription targets implicated in skeletal development
• RARE DOSAGE ABNORMALITIES - COPY NUMBER VARIATIONS FLANKING THE SHOX GENE
• Short stature and <em>SHOX</em> (Short stature homeobox) variants-efficacy of screening using various strategies
• SHOX triggers the lysosomal pathway of apoptosis via oxidative stress